Variant report

Variant	rs28821293
Chromosome Location	chr14:39540516-39540517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39540291-39540644	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SEC23A	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1002193	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10129762	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10131369	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10134166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10139666	0.85[EUR][1000 genomes]
rs10140763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10141079	0.82[AMR][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10142117	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142350	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10145417	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10145476	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10146176	0.83[ASN][1000 genomes]
rs10148712	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10150756	0.82[AMR][1000 genomes]
rs10151124	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10483543	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1050136	0.84[ASN][1000 genomes]
rs11622731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11622968	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845793	0.82[AMR][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11850579	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11851680	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12323565	0.82[AMR][1000 genomes]
rs12587208	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17092044	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092050	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17108596	0.82[AMR][1000 genomes]
rs17108696	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17108948	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2025061	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2144529	0.81[ASN][1000 genomes]
rs2144530	0.90[ASN][1000 genomes]
rs2180216	0.81[ASN][1000 genomes]
rs2273592	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	0.83[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28501673	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28583114	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28666016	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45622837	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55672305	0.82[AMR][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57326310	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58601678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59465524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	0.83[ASN][1000 genomes]
rs74048711	0.83[ASN][1000 genomes]
rs761805	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8018720	0.90[ASN][1000 genomes]
rs8019396	0.82[AMR][1000 genomes]
rs8022510	0.88[ASN][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs993675	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525400-39540600	Strong transcription	NH-A	brain
2	chr14:39525600-39540600	Strong transcription	HSMM	muscle
3	chr14:39525600-39541000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:39526000-39557200	Strong transcription	Osteobl	bone
6	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:39526800-39540800	Weak transcription	Right Ventricle	heart
8	chr14:39526800-39541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:39526800-39552600	Weak transcription	Gastric	stomach
10	chr14:39526800-39553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:39526800-39554000	Weak transcription	Aorta	Aorta
12	chr14:39526800-39554000	Weak transcription	Esophagus	oesophagus
13	chr14:39526800-39554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:39526800-39554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:39527000-39540600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:39527000-39540600	Weak transcription	Thymus	Thymus
18	chr14:39527000-39541800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:39527000-39554200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:39527400-39549000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:39527600-39554200	Weak transcription	K562	blood
23	chr14:39528000-39547800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
25	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:39528200-39545800	Strong transcription	Dnd41	blood
27	chr14:39528200-39548800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:39529800-39554200	Weak transcription	Fetal Brain Male	brain
33	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
34	chr14:39530600-39552000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:39531200-39540800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:39531200-39541600	Weak transcription	Brain Substantia Nigra	brain
37	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
38	chr14:39531400-39545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:39531600-39543000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:39534000-39543200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:39534200-39541400	Weak transcription	Fetal Brain Female	brain
43	chr14:39534200-39545800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:39534600-39540600	Weak transcription	Small Intestine	intestine
46	chr14:39534600-39541600	Weak transcription	NHEK	skin
47	chr14:39534600-39554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:39534800-39541200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:39534800-39541600	Weak transcription	Fetal Kidney	kidney

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